A number sign (#) is used with this entry because of evidence that Haim-Munk syndrome (HMS) is caused by homozygous mutation in the gene encoding. Haim–Munk syndrome is a cutaneous condition caused, like Papillon-Lefevre Syndrome, by a mutation in the cathepsin C gene. It is named after Dr. Salim Haim. Abstract. Of the many palmoplantar keratoderma (PPK) conditions, only Papillon- Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with.
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The disorder is named after the investigators Haim S, Munk J who originally reported the disease entity in among members of an extended Jewish family kindred from Cochin, India. In some rare cases, the upper portions of synrdome hands and feet, the eyelids, the lips, and the cheeks may also be affected. Identification of the physical symptoms is important to distinguish this disease from Papillon-Lefevre Syndrome.
General examination showed symmetrical, well demarcated, keratotic and confluent plaques affecting the skin of palms, soles and elbows [ Figure 3 ]. Haim-Munk syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, severe periodonitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic haiim of the fingers summary by Hart et al.
Haim-Munk syndrome is a rare inherited disorder characterized by the development of dry scaly patches of skin that are abnormally red and thickened on the palms of the hands and soles of the feet palmoplantar hyperkeratosis.
Chromosomes are found in the nucleus of all body cells. She also suffered from dry and thickened skin with recurrent skin infections. Symptoms of the following disorders may be similar to those of Haim-Munk syndrome. Salim Haim and the syndrome that bears his name Al Aboud, K. Salim Haim and Dr. On intraoral examination, marked drifting of teeth was noticed.
Her oral hygiene was extremely poor, with an abundance of plaque accumulation [ Figure 2 ]. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
Haim–Munk syndrome – Wikipedia
A typical pattern of periodontitis as reported in HMS was noticed in the proband with deciduous teeth appearing at the normal time but shedding by age of four. Keratosis palmoplantaris with periodontopathy: Of palms, soles, and gums. The reported case resembled with PLS, but with general examination various skeletal manifestations came into highlight, suggesting it being a case of HMS.
Genodermatoses Palmoplantar keratodermas Syndromes affecting teeth Syndromes affecting the skin Rare syndromes.
How to cite this article: The diagnosis of Haim-Munk syndrome may be confirmed by a thorough clinical evaluation that includes a detailed patient history and identification of characteristic physical findings.
Diagnosis The diagnosis of Syndrme syndrome may be confirmed by a thorough clinical evaluation that includes a detailed patient history and identification of characteristic physical findings. None, Conflict of Interest: She had normal eruption of deciduous teeth, but early shedding starting at three years of age with complete shedding by the age of six years.
Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. Footnotes Source of Support: Pediatricians, surgeons, physicians who evaluate and treat skin problems dermatologistsdentists, specialists in treating disorders affecting the structures supporting and surrounding the teeth periodontistsspecialists in treating disorders affecting the feet podiatristsand other health care professionals may need to systematically and comprehensively plan an affected child’s treatment.
In most cases, individuals with Haim-Munk syndrome mubk overgrowth hypertrophy of the fingernails and toenails causing them to become abnormally thick to appear hooked and curved inward. Australasian J Dermatol ; In this case report, a year-old girl and her sibling are described who presented with the cardinal features of HMS. Indian J Dermatol Venereol Leprol ; Years Published, Related articles Haim Munk syndrome palmo plantar keratoderma acetretin acroosteolysis cathepsin C gene.
OMIM Entry – # – HAIM-MUNK SYNDROME; HMS
However, most affected individuals develop chronic severe inflammation and degeneration of the tissues that surround and support the teeth gingivitis and periodontosis. Destructive arthritis in a patient with Haim-Munk syndrome.
The importance of differentiating the two syndromes lies in the approach for treatment. The CTSC cathepsin C gene regulates the production of the enzyme cathepsin C, which is expressed in various organs and tissues.
Received May 4; Accepted Oct 5. The pattern was entirely consistent with autosomal recessive inheritance. Causes Haim-Munk syndrome is inherited hakm an autosomal recessive trait.